ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

N J Simmonds; K W Southern; E De Wachter; K De Boeck; F Bodewes; J G Mainz; P G Middleton; C Schwarz; V Vloeberghs; M Wilschanski; E Bourrat; J D Chalmers; C Y Ooi; D Debray; D G Downey; P Eschenhagen; E Girodon; G Hickman; A Koitschev; D Nazareth; J A Nick; D Peckham; D VanDevanter; C Raynal; I Scheers; M D Waller; I Sermet-Gaudelus; C Castellani; ECFS Diagnostic Network Working Group

doi:10.1016/j.jcf.2024.03.008

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

J Cyst Fibros. 2024 Jul;23(4):590-602. doi: 10.1016/j.jcf.2024.03.008. Epub 2024 Mar 19.

Authors

N J Simmonds¹, K W Southern², E De Wachter³, K De Boeck⁴, F Bodewes⁵, J G Mainz⁶, P G Middleton⁷, C Schwarz⁸, V Vloeberghs⁹, M Wilschanski¹⁰, E Bourrat¹¹, J D Chalmers¹², C Y Ooi¹³, D Debray¹⁴, D G Downey¹⁵, P Eschenhagen¹⁶, E Girodon¹⁷, G Hickman¹¹, A Koitschev¹⁸, D Nazareth¹⁹, J A Nick²⁰, D Peckham²¹, D VanDevanter²², C Raynal²³, I Scheers²⁴, M D Waller²⁵, I Sermet-Gaudelus²⁶, C Castellani²⁷; ECFS Diagnostic Network Working Group

Affiliations

¹ Adult Cystic Fibrosis Centre, Royal Brompton Hospital, London, UK; National Heart and Lung Institute, Imperial College London, UK. Electronic address: [email protected].
² Department of Women's and Children's Health, University of Liverpool, University of Liverpool, Alder Hey Children's Hospital, Liverpool, UK.
³ Cystic Fibrosis Center, Pediatric Pulmonology department, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
⁴ Department of Pediatrics, University of Leuven, Leuven, Belgium.
⁵ Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Groningen Medical Center, Groningen, the Netherlands.
⁶ Cystic Fibrosis Center, Brandenburg Medical School (MHB), University, Klinikum Westbrandenburg, Brandenburg an der Havel, Germany.
⁷ Cystic Fibrosis and Bronchiectasis Service, Department of Respiratory and Sleep Medicine, Westmead Hospital, Sydney, News South Wales, Australia.
⁸ HMU-Health and Medical University Potsdam, CF Center Westbrandenburg, Campus Potsdam, Germany.
⁹ Brussels IVF, Centre for Reproductive Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
¹⁰ CF Center, Department of Pediatrics, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
¹¹ APHP, Service de Dermatologie, CRMR MAGEC Nord St Louis, Hôpital-Saint Louis, Paris, France.
¹² Division of Molecular and Clinical Medicine, University of Dundee, Dundee, UK.
¹³ a) School of Clinical Medicine, Discipline of Paediatrics and Child Health, Medicine & Health, University of New South Wales, Level 8, Centre for Child Health Research & Innovation Bright Alliance Building Cnr Avoca & High Streets, Randwick, Sydney, NSW, Australia, 2031; b) Sydney Children's Hospital, Gastroenterology Department, High Street, Randwick, Sydney, NSW, Australia, 2031.
¹⁴ Pediatric Hepatology unit, Centre de Référence Maladies Rares (CRMR) de l'atrésie des voies biliaires et cholestases génétiques (AVB-CG), National network for rare liver diseases (Filfoie), ERN rare liver, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris, Paris, France; Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine (CRSA), Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.
¹⁵ Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK.
¹⁶ CF Center Westbrandenburg, Potsdam, Germany.
¹⁷ Service de Médecine Génomique des Maladies de Système et d'Organe, APHP.Centre - Université de Paris Cité, Hôpital Cochin, Paris, France.
¹⁸ Klinikum Stuttgart, Pediatric Otorhinolaryngology, Stuttgart, Germany.
¹⁹ a) Adult CF Unit, Liverpool Heart and Chest Hospital NHS Foundation Trust, U.K; b) Clinical Infection, Microbiology and Immunology, University of Liverpool, UK.
²⁰ Department of Medicine, National Jewish Health, Denver, CO, 80206, USA, Department of Medicine, University of Colorado School of Medicine, Aurora, CO, 80045, USA.
²¹ Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.
²² Department of Pediatrics, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
²³ Laboratory of molecular genetics, University Hospital of Montpellier and INSERM U1046 PHYMEDEXP, Montpellier, France.
²⁴ Department of Pediatrics, Pediatric Gastroenterology and Hepatology Unit, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.
²⁵ Adult Cystic Fibrosis and Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, United Kingdom; Honorary Senior Lecturer, King's College London, London, United Kingdom.
²⁶ INSERM U1151, Institut Necker Enfants Malades, Paris, France; Université de Paris, Paris, France; Centre de référence Maladies Rares, Mucoviscidose et maladies apparentées, Hôpital Necker Enfants malades, Paris, France.
²⁷ IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.

PMID: 38508949
DOI: 10.1016/j.jcf.2024.03.008

Abstract

This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.

Keywords: ABPA; Aquagenic palmoplantar keratoderma; Aquagenic wrinkling; Bronchiestasis; CFTR; CFTR-related disorder; Congenital absence of the vas deferens; Cystic fibrosis; Genetics; Intestinal current measurement; Nasal potential difference; Pancreatitis; Rhinosinusitis; Sclerosing cholangitis; Sweat test.

MeSH terms

Aspergillosis, Allergic Bronchopulmonary / diagnosis
Aspergillosis, Allergic Bronchopulmonary / genetics
Aspergillosis, Allergic Bronchopulmonary / therapy
Bronchiectasis / diagnosis
Bronchiectasis / genetics
Bronchiectasis / therapy
Cystic Fibrosis Transmembrane Conductance Regulator* / genetics
Cystic Fibrosis* / diagnosis
Cystic Fibrosis* / genetics
Cystic Fibrosis* / therapy
Humans
Male
Male Urogenital Diseases / diagnosis
Male Urogenital Diseases / genetics
Male Urogenital Diseases / therapy
Pancreatitis / diagnosis
Pancreatitis / etiology
Pancreatitis / therapy
Standard of Care
Vas Deferens / abnormalities

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator

Supplementary concepts

Congenital bilateral aplasia of vas deferens